Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Glis3'

568183

Institutional Source

Beutler Lab

Gene Symbol

Glis3

Ensembl Gene

ENSMUSG00000052942

Gene Name

GLIS family zinc finger 3

Synonyms

E330013K21Rik, 4833409N03Rik

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28236251-28657477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28508998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 329 (V329F)

Ref Sequence

ENSEMBL: ENSMUSP00000124635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000112612] [ENSMUST00000159178] [ENSMUST00000160376] [ENSMUST00000161328] [ENSMUST00000162022]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065113

SMART Domains

Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112612
AA Change: V329F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: V329F

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159178

SMART Domains

Protein: ENSMUSP00000124823
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160376

SMART Domains

Protein: ENSMUSP00000124143
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161328

SMART Domains

Protein: ENSMUSP00000125721
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162022
AA Change: V329F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: V329F

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART
low complexity region	700	709	N/A	INTRINSIC
low complexity region	722	746	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	Het

Other mutations in Glis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Glis3	APN	19	28,517,664 (GRCm39)	missense	probably damaging	1.00
IGL02240:Glis3	APN	19	28,508,925 (GRCm39)	missense	probably damaging	1.00
IGL02347:Glis3	APN	19	28,509,283 (GRCm39)	missense	probably benign
IGL02904:Glis3	APN	19	28,335,352 (GRCm39)	missense	possibly damaging	0.58
glee	UTSW	19	28,240,077 (GRCm39)	utr 3 prime	probably benign
R0071:Glis3	UTSW	19	28,241,255 (GRCm39)	splice site	probably benign
R0071:Glis3	UTSW	19	28,241,255 (GRCm39)	splice site	probably benign
R0106:Glis3	UTSW	19	28,509,268 (GRCm39)	missense	possibly damaging	0.67
R0106:Glis3	UTSW	19	28,509,268 (GRCm39)	missense	possibly damaging	0.67
R0399:Glis3	UTSW	19	28,276,168 (GRCm39)	splice site	probably benign
R1462:Glis3	UTSW	19	28,239,918 (GRCm39)	utr 3 prime	probably benign
R1901:Glis3	UTSW	19	28,508,985 (GRCm39)	missense	probably damaging	1.00
R1976:Glis3	UTSW	19	28,240,077 (GRCm39)	utr 3 prime	probably benign
R1982:Glis3	UTSW	19	28,508,674 (GRCm39)	missense	probably damaging	1.00
R2155:Glis3	UTSW	19	28,508,702 (GRCm39)	missense	probably benign	0.16
R3723:Glis3	UTSW	19	28,239,991 (GRCm39)	nonsense	probably null
R4496:Glis3	UTSW	19	28,643,527 (GRCm39)	missense	possibly damaging	0.90
R4921:Glis3	UTSW	19	28,643,504 (GRCm39)	missense	probably damaging	1.00
R5088:Glis3	UTSW	19	28,508,979 (GRCm39)	missense	probably benign	0.00
R5241:Glis3	UTSW	19	28,327,423 (GRCm39)	missense	probably benign	0.02
R5557:Glis3	UTSW	19	28,241,409 (GRCm39)	missense	probably benign	0.00
R6226:Glis3	UTSW	19	28,294,702 (GRCm39)	missense	probably damaging	1.00
R6309:Glis3	UTSW	19	28,294,761 (GRCm39)	missense	probably benign	0.24
R6488:Glis3	UTSW	19	28,276,253 (GRCm39)	missense	probably benign	0.13
R7069:Glis3	UTSW	19	28,508,919 (GRCm39)	missense	probably damaging	1.00
R7260:Glis3	UTSW	19	28,508,802 (GRCm39)	missense	probably benign
R7313:Glis3	UTSW	19	28,508,419 (GRCm39)	missense	probably damaging	1.00
R7767:Glis3	UTSW	19	28,241,360 (GRCm39)	missense	probably benign	0.18
R7839:Glis3	UTSW	19	28,294,773 (GRCm39)	missense	possibly damaging	0.81
R8133:Glis3	UTSW	19	28,327,406 (GRCm39)	missense	probably benign	0.00
R8937:Glis3	UTSW	19	28,643,266 (GRCm39)	missense	possibly damaging	0.47
R9184:Glis3	UTSW	19	28,509,007 (GRCm39)	missense	probably damaging	1.00
R9484:Glis3	UTSW	19	28,508,403 (GRCm39)	missense	probably damaging	1.00
T0970:Glis3	UTSW	19	28,508,332 (GRCm39)	missense	probably damaging	1.00
Z1176:Glis3	UTSW	19	28,261,168 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCTGCATGCGTTCATACTC -3'
(R):5'- ACAGCGTCTCCAACTCGTTG -3'

Sequencing Primer
(F):5'- GCATGCGTTCATACTCCAGTG -3'
(R):5'- AACTCGTTGCCACCCTACC -3'

Posted On

2019-06-26